ClinVar Miner

List of variants reported as likely pathogenic for Cornelia de Lange syndrome 2 by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_006306.3(SMC1A):c.110G>T (p.Gly37Val) rs1569359540
NM_006306.3(SMC1A):c.128A>T (p.Asp43Val) rs1569359535
NM_006306.3(SMC1A):c.2420G>A (p.Arg807His) rs1569356550
NM_006306.3(SMC1A):c.586C>T (p.Arg196Cys) rs587784422

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